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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ADORA2A, AIFM3, ALG12, AP000350.4, AP1B1, APOBEC3B, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATP5L2, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BPIFC, BRD1, C1QTNF6, C22orf31, C22orf34, C22orf42, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC116, CCDC157, CCT8L2, CECR1, CECR6, CELSR1, CERK, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CTA-299D3.8, CYP2D6, CYP2D7P, CYTH4, DENND6B, DGCR14, DGCR6L, EFCAB6, EIF3L, EIF4ENIF1, ELFN2, EMID1, FAM109B, FAM118A, FAM211B, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAS2L1, GATSL3, GCAT, GGT1, GGT2, GGT5, GGTLC2, GNB1L, GRAMD4, GSTT2B, GTSE1, HDAC10, HIC2, HMGXB4, HPS4, IGLC3, IGLJ2, IGLJ3, IGLJ5, IGLJ7, IGLV1-47, IGLV10-54, IGLV2-14, IGLV2-18, IGLV2-23, IGLV3-12, IGLV3-16, IGLV3-22, IGLV3-25, IGLV4-60, IGLV5-37, IGLV5-45, IGLV5-48, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCTD17, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, LARGE, LIMK2, LL22NC03-75H12.2, LMF2, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MED15, MEI1, MICAL3, MICALL1, MIOX, MKL1, MMP11, MOV10L1, MPPED1, MTFP1, MYH9, MYO18B, NAGA, NCF4, NEFH, NIPSNAP1, NUP50, OR11H1, OSBP2, PACSIN2, PANX2, PARVB, PARVG, PIK3IP1, PIM3, PIWIL3, PLA2G3, PLXNB2, PNPLA3, PNPLA5, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RBFOX2, RFPL1, RFPL2, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RPL3, RRP7A, RTCB, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SERHL2, SEZ6L, SF3A1, SFI1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC5A1, SLC7A4, SMC1B, SMTN, SNAP29, SNRPD3, SPECC1L, SREBF2, SRRD, SSTR3, SUN2, SUSD2, SYNGR1, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TFIP11, THAP7, THOC5, TMPRSS6, TNRC6B, TOB2, TOM1, TOP3B, TPST2, TRABD, TRIOBP, TSPO, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, USP18, USP41, VPREB1, WBP2NL, XKR3, XRCC6, YDJC, ZBED4, ZDHHC8, ZNF280A, ZNF280B, ZNF70,

+ Genes associated with diseases 50

Genes at Omim

A4GALT, ACO2, ALG12, APOL1, APOL2, APOL4, ARSA, ATP6V1E1, ATXN10, BCR, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, FBLN1, FBXO7, GGT1, GGT2, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MKL1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, SBF1, SCARF2, SCO2, SHANK3, SLC5A1, SNAP29, SPECC1L, TBX1, TCN2, TMPRSS6, TRIOBP, TUBGCP6, TXNRD2, TYMP, UPB1, USP18,

A4GALT	NOR polyagglutination syndrome, 111400 (3) [Blood group, P1Pk system, P(2) phenotype], 111400 (3) [Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2	Infantile cerebellar-retinal degeneration, 614559 (3) ?Optic atrophy 9, 616289 (3)
ALG12	Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2	{Schizophrenia}, 181500 (1)
APOL4	{Schizophrenia}, 181500 (1)
ARSA	Metachromatic leukodystrophy, 250100 (3)
ATP6V1E1	Cutis laxa, autosomal recessive, type IIC, 617402 (3)
ATXN10	Spinocerebellar ataxia 10, 603516 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3) ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3) Spinal muscular atrophy, Jokela type, 615048 (3)
COMT	{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4	Cataract 23, 610425 (3)
CRYBB2	Cataract 3, multiple types, 601547 (3)
CRYBB3	Cataract 22, 609741 (3)
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
FBLN1	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7	Parkinson disease 15, autosomal recessive, 260300 (3)
GGT1	?Glutathioninuria, 231950 (3)
GGT2	[Gamma-glutamyltransferase, familial high serum] (2)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA	Immunodeficiency 51, 613953 (3)
KCTD17	Dystonia 26, myoclonic, 616398 (3)
KREMEN1	Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1	{Schwannomatosis-2, susceptibility to}, 615670 (3) Noonan syndrome 10, 616564 (3) Noonan syndrome 2, 605275 (3)
MKL1	Megakaryoblastic leukemia, acute (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA	Kanzaki disease, 609242 (3) Schindler disease, type I, 609241 (3) Schindler disease, type III, 609241 (3)
NCF4	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH	Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1	Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) Myopia 6, 608908 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
SLC5A1	Glucose/galactose malabsorption, 606824 (3)
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SPECC1L	Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3)
TBX1	Conotruncal anomaly face syndrome, 217095 (3) DiGeorge syndrome, 188400 (3) Tetralogy of Fallot, 187500 (3) Velocardiofacial syndrome, 192430 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TMPRSS6	Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2	?Glucocorticoid deficiency 5, 617825 (3)
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1	Beta-ureidopropionase deficiency, 613161 (3)
USP18	Pseudo-TORCH syndrome 2, 617397 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, ATXN10, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYP2D6, FBLN1, FBXO7, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, SBF1, SCARF2, SCO2, SHANK3, SLC5A1, SNAP29, SPECC1L, TBX1, TCN2, TMPRSS6, TRIOBP, TUBGCP6, TYMP, UPB1, UPK3A,

A4GALT	Blood group, P system
ACO2	Infantile cerebellar-retinal degeneration Optic atrophy 9
ALG12	Congenital disorder of glycosylation, type Ig
ARSA	Metachromatic leukodystrophy
ATXN10	Spinocerebellar ataxia 10
BCR	CML treatment, response to
CECR1	Polyarteritis nodosa, childhood-onset (ADA2 deficiency) Sneddon syndrome
CHCHD10	Myopathy, isolated mitochondrial, autosomal dominant
COMT	Medication response, association with
CRYBA4	Cataract 23
CRYBB2	Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like Cataract, congenital, cerulean type, 2
CRYBB3	Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6	Drug metabolism, CYP2CD6-related
FBLN1	Synpolydactyly 2
FBXO7	Parkinson disease 15, autosomal recessive
HPS4	Hermansky-Pudlak syndrome 4
IL17RA	Candiasis, familial, 5
KCTD17	Dystonia 26, myoclonic
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1	Schwannomatosis 2 Noonan syndrome 10
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA	Kanzaki disease Alpha-n-acetylgalactosaminidase deficiency Schindler disease type I Schindler disease type III
NCF4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH	Hyperprolinemia, type I
SBF1	Charcot-Marie-Tooth disease, type 4B3
SCARF2	Van den Ende-Gupta syndrome
SCO2	Myopia 6 Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy
SHANK3	Phelan-McDermid syndrome Schizophrenia
SLC5A1	Glucose/galactose malabsorption
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SPECC1L	Facial clefting, oblique, 1 Opitz GBBB syndrome, type II
TBX1	Conotruncal anomaly face syndrome Tetralogy of Fallot
TCN2	Transcobalamin II deficiency
TMPRSS6	Iron-refractory iron deficiency anemia
TRIOBP	Deafness, autosomal recessive 28
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1	Beta-ureidopropionase deficiency
UPK3A	Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 1608
Number of Genes: 260

Export to: CSV

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A4GALT
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	cypcyp_20170119	22	rs6002904 dbSNP Clinvar	43089055	38637900.0	G	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.69529	0.69530	0.34674				None None	None None None None	A4GALT\|0.02220674\|73.08%
AC002472.13
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	cypcyp_20170119	22	rs28504593 dbSNP Clinvar	21403375	1230230.0	C	A	VQSRTrancheSNP99.60to99.80	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.18311	0.18310		0.00	0.88		None None	None None None None	None
	View	cypcyp_20170119	22	rs28450680 dbSNP Clinvar	21403376	1293260.0	C	T	VQSRTrancheSNP99.60to99.80	0/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.18311	0.18310					None None	None None None None	None
AC006547.14
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	cypcyp_20170119	22	rs73391926 dbSNP Clinvar	20138105	7029060.0	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.46985	0.46980					None None	None None None None	None
	View	cypcyp_20170119	22	rs175181 dbSNP Clinvar	20136263	2063230.0	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.19369	0.19370					None None	None None None None	None
AC006946.15
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	cypcyp_20170119	22	rs5748871 dbSNP Clinvar	17603477	2144610.0	A	G	PASS	0/1	0	None	None	None	0.44828	0.44830			0.00		None None	None None None None	None
	View	cypcyp_20170119	22	rs5992629 dbSNP Clinvar	17602839	22730900.0	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.87820	0.87820					None None	None None None None	None
AC008132.13
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	cypcyp_20170119	22	rs371365085 dbSNP Clinvar	18835754	3472070.0	G	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.21086	0.21090		0.00	0.00		None None	None None None None	None
	View	cypcyp_20170119	22	rs200326813 dbSNP Clinvar	18835523	13993600.0	T	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	None
	View	cypcyp_20170119	22	rs16987804 dbSNP Clinvar	18835403	16130600.0	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	None
	View	cypcyp_20170119	22	rs62231277 dbSNP Clinvar	18835365	37629000.0	T	G	VQSRTrancheSNP99.90to99.95	1/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.77496	0.77500					None None	None None None None	None
	View	cypcyp_20170119	22	rs62231276 dbSNP Clinvar	18835221	101623000.0	A	G	VQSRTrancheSNP99.60to99.80	1/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.89397	0.89400					None None	None None None None	None
	View	cypcyp_20170119	22	rs75722191 dbSNP Clinvar	18835163	4341620.0	G	A	VQSRTrancheSNP99.90to99.95	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.17	0.01		None None	None None None None	None
	View	cypcyp_20170119	22	rs201529027 dbSNP Clinvar	18834942	1908490.0	A	G	VQSRTrancheSNP99.80to99.90	0/1	0	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	None
	View	cypcyp_20170119	22	rs774451964 dbSNP Clinvar	18834679	366636.0	A	G	VQSRTrancheSNP99.80to99.90	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	None
	View	cypcyp_20170119	22	rs542183 dbSNP Clinvar	18834773	3323090.0	C	T	VQSRTrancheSNP99.80to99.90	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.08	0.97		None None	None None None None	None
	View	cypcyp_20170119	22	rs376835455 dbSNP Clinvar	18835820	2728090.0	A	C	VQSRTrancheSNP99.95to100.00	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	None
	View	cypcyp_20170119	22	rs571553209 dbSNP Clinvar	18834830	2293160.0	C	T	VQSRTrancheSNP99.90to99.95	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.04373	0.04373		0.07	0.36		None None	None None None None	None
ACO2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	cypcyp_20170119	22	rs1799932 dbSNP Clinvar	41911525	16549600.0	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	SILENT	0.27037	0.27040	0.38375				None None	None None None None	ACO2\|0.657906877\|9.8%
ADORA2A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score